ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.11936A>C (p.Gln3979Pro)

dbSNP: rs748019019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001917770 SCV002170020 uncertain significance not provided 2022-03-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 3979 of the HERC1 protein (p.Gln3979Pro). This variant is present in population databases (rs748019019, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with HERC1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001917770 SCV005080891 uncertain significance not provided 2023-04-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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